Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data

被引：5

作者：

Pingzhao Hu

Wei Xu

Lu Cheng

Xiang Xing

Andrew D Paterson

机构：

[1] The Hospital for Sick Children,The Centre for Applied Genomics (TCAG) and Program in Genetics and Genome Biology

[2] University of Toronto,Dalla Lana School of Public Health

[3] Princess Margaret Hospital,Department of Biostatistics

[4] University of Toronto,Department of Computer Science and Statistics Department

来源：

BMC Proceedings | / 5卷 / Suppl 9期

关键词：

Vascular Endothelial Growth Factor; Rare Variant; Causal Gene; Genetic Risk Score; Genetic Analysis Workshop;

D O I：

10.1186/1753-6561-5-S9-S45

中图分类号：

学科分类号：

摘要：

Pathway-based analysis has been recently used in joint tests of association between disease and a group of common genetic variants. Here we explore this idea for the joint effects analysis of rare genetic variants and their association with quantitative traits and disease. We accumulate multiple rare minor alleles in a genetic risk score for each individual in a given pathway; this score is then used to assess association with quantitative phenotypes and disease. We demonstrate that this approach may be better than studying single rare variants or a gene risk score for identifying individuals with significantly greater risk.

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